Indications

Methodology

Deletion/Duplication Analysis: DNA
isolated from peripheral
blood is hybridized to a gene-targeted CGH array to detect deletions and
duplications. The targeted CGH array has overlapping probes that cover
the entire genomic region.

Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.

Detection

Deletion/Duplication: Detection is limited to duplications
and deletions. The CGH array will not detect point or intronic
pathogenic variants. Results of molecular analysis must be interpreted
in the context of the patient's clinical and/or biochemical phenotype.